Publications by authors named "Marianne Hoogeveen-Westerveld"

38Publications

Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients.

J Inherit Metab Dis 2020 Jun 7. Epub 2020 Jun 7.

Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12268DOI Listing
June 2020

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.

J Pediatr 2018 04 7;195:236-243.e3. Epub 2018 Feb 7.

Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.11.046DOI Listing
April 2018

Response to Herbert et al.

Genet Med 2017 11 29;19(11):1283-1284. Epub 2017 Jun 29.

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/gim.2017.49DOI Listing
November 2017

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Dev Med Child Neurol 2017 10 25;59(10):1063-1070. Epub 2017 May 25.

Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/dmcn.13467DOI Listing
October 2017

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

Genet Med 2017 01 30;19(1):90-97. Epub 2016 Jun 30.

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/gim.2016.70DOI Listing
January 2017

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).

J Biol Chem 2016 Apr 18;291(16):8591-601. Epub 2016 Feb 18.

From the Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China, the Department of Biological Structure, University of Washington, Seattle, Washington 98195,

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http://dx.doi.org/10.1074/jbc.M115.701870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4861430PMC
April 2016

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach.

J Neuromuscul Dis 2015;2(s1):S39

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.

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January 2015

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Mol Genet Metab 2015 Mar 5;114(3):467-73. Epub 2014 Dec 5.

Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.11.018DOI Listing
March 2015

Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.

Hum Mutat 2015 Feb 27;36(2):200-9. Epub 2014 Nov 27.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22723DOI Listing
February 2015

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Hum Mutat 2015 Jan 1;36(1):57-68. Epub 2014 Dec 1.

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22705DOI Listing
January 2015

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

J Inherit Metab Dis 2015 Mar 9;38(2):305-14. Epub 2014 Apr 9.

Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9707-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341007PMC
March 2015

TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice.

Ann Neurol 2013 Oct 10;74(4):569-79. Epub 2013 Sep 10.

Department of Neuroscience, Erasmus University Medical Center, Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.23943DOI Listing
October 2013

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits.

BMC Biochem 2012 Sep 24;13:18. Epub 2012 Sep 24.

Department of Clinical Genetics, Erasmus Medical Centre, Dr, Molewaterplein 50, Rotterdam, 3015 GE, The Netherlands.

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http://www.biomedcentral.com/1471-2091/13/18
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http://dx.doi.org/10.1186/1471-2091-13-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517901PMC
September 2012

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Hum Mutat 2012 Aug 29;33(8):1161-5. Epub 2012 May 29.

Department of Clinical Genetics and Paediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22108DOI Listing
August 2012

The genotype-phenotype correlation in Pompe disease.

Am J Med Genet C Semin Med Genet 2012 Feb 17;160C(1):59-68. Epub 2012 Jan 17.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.31318DOI Listing
February 2012

Rheb is essential for murine development.

Mol Cell Biol 2011 Apr 14;31(8):1672-8. Epub 2011 Feb 14.

Department of Neuroscience, Erasmus MC University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.

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http://dx.doi.org/10.1128/MCB.00985-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126339PMC
April 2011

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.

Biochim Biophys Acta 2010 Sep 12;1802(9):774-81. Epub 2010 Jun 12.

Department of Clinical Genetics, Erasmus Medical Centre, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2010.06.004DOI Listing
September 2010

A reliable cell-based assay for testing unclassified TSC2 gene variants.

Eur J Hum Genet 2009 Mar 15;17(3):301-10. Epub 2008 Oct 15.

Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.

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http://www.nature.com/articles/ejhg2008184
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http://dx.doi.org/10.1038/ejhg.2008.184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986163PMC
March 2009